Canonical Allele Identifier: CA379130891

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 573008
• ClinVar RCV Id: RCV000694551
• dbSNP Id: rs1564820729
• gnomAD v4: 11-2572011-A-C
• MyVariant Identifiers: chr11:g.2593241A>C (hg19) ; chr11:g.2572011A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572011A>C , CM000673.2:g.2572011A>C	GRCh38
NC_000011.9:g.2593241A>C , CM000673.1:g.2593241A>C	GRCh37
NC_000011.8:g.2549817A>C	NCBI36
NG_008935.1:g.132021A>C , LRG_287:g.132021A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.423-2A>C	ENSP00000434560.2:n.423-2A>C
ENST00000646564.2:c.478-11424A>C	ENSP00000495806.2:n.478-11424A>C
ENST00000155840.12:c.684-2A>C MANE Select	ENSP00000155840.2:n.684-2A>C
ENST00000335475.6:c.303-2A>C	ENSP00000334497.5:n.303-2A>C
ENST00000646564.1:c.124-11424A>C	ENSP00000495806.1:n.124-11424A>C
ENST00000155840.9:c.684-2A>C	ENSP00000155840.2:n.684-2A>C
ENST00000335475.5:c.303-2A>C	ENSP00000334497.5:n.303-2A>C
ENST00000496887.6:c.423-2A>C	ENSP00000434560.1:n.423-2A>C
NM_000218.2:c.684-2A>C , LRG_287t1:c.684-2A>C	NP_000209.2:n.684-2A>C
NM_181798.1:c.303-2A>C , LRG_287t2:c.303-2A>C	NP_861463.1:n.303-2A>C
NM_000218.3:c.684-2A>C MANE Select	NP_000209.2:n.684-2A>C